Homo sapiens Gene: YWHAQ
Summary
InnateDB Gene IDBG-27933.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol YWHAQ
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
Synonyms 14-3-3; 1C5; HS1;
Species Homo sapiens
Ensembl Gene ENSG00000134308
Encoded Proteins
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99%% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5\' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:9583972-9631014
Strand Reverse strand
Band p25.1
Transcripts
ENST00000381844 ENSP00000371267
ENST00000238081 ENSP00000238081
ENST00000446619 ENSP00000398990
ENST00000474715
ENST00000460093
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 518 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
Experimentally validated
Total 518 [view]
Protein-Protein 516 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 15 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0047485 protein N-terminus binding
GO:0071889 14-3-3 protein binding
Biological Process
GO:0006605 protein targeting
GO:0006915 apoptotic process
GO:0007264 small GTPase mediated signal transduction
GO:0021762 substantia nigra development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0061024 membrane organization
GO:0097193 intrinsic apoptotic signaling pathway
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Alpha6Beta4Integrin pathway
TNFalpha pathway
TCR pathway
IL3 pathway
FSH pathway
REACTOME
Apoptosis pathway
Activation of BH3-only proteins pathway
Translocation of GLUT4 to the plasma membrane pathway
Intrinsic Pathway for Apoptosis pathway
Activation of BAD and translocation to mitochondria pathway
Membrane Trafficking pathway
KEGG
Cell cycle pathway
Oocyte meiosis pathway
Pathogenic Escherichia coli infection pathway
INOH
Fas signaling pathway pathway
IL-7 signaling pathway
EPO signaling pathway pathway
Wnt signaling pathway pathway
Insulin receptor signaling pathway
PID BIOCARTA
PID NCI
Role of Calcineurin-dependent NFAT signaling in lymphocytes
Validated transcriptional targets of TAp63 isoforms
Cross-References
SwissProt P27348
TrEMBL B4DY04 E9PG15 Q53RR5 Q53S41
UniProt Splice Variant
Entrez Gene 10971
UniGene Hs.74405
RefSeq NM_006826
HUGO HGNC:12854
OMIM 609009
CCDS CCDS1666
HPRD
IMGT
EMBL AC073195 AC082651 AF070556 AK302208 AK316158 BC050601 BC056867 BC093019 BT020014 CH471053 X56468 X57347
GenPept AAC28640 AAH50601 AAH56867 AAH93019 AAV38817 AAX93143 AAY24326 BAG63566 BAH14529 CAA39840 CAA40622 EAX00977 EAX00979
RNA Seq Atlas 10971